Varaico: Literature-Extracted Genetic Variants

MMP8

223 papers

RefSeq Summary

This gene encodes a member of the matrix metalloproteinase (MMP) family of proteins. These proteins are involved in the breakdown of extracellular matrix in embryonic development, reproduction, and ti...

Pfam Domains

PG_binding_1aa 26–86UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 107–262UCSCMatrixin

Hemopexinaa 285–327UCSCHemopexin

Hemopexinaa 329–372UCSCHemopexin

Hemopexinaa 377–422UCSCHemopexin

Hemopexinaa 424–464UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 8

HGNC Previous Symbol

CLG1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002424.3

p.G369V

c.1106G>T

Surrounding Variants

1 paper

NM_002424.3

p.S366L

c.1097C>T

1 paper

NM_002424.3

p.S372S

c.1116C>T

1 paper

NM_002424.3

p.Y361C

c.1082A>G

1 paper

NM_002424.3

p.G346V

c.1037G>T

1 paper

NM_002424.3

p.G346C

c.1036G>T

1 paper

NM_002424.3

p.Q394*

c.1180C>T

1 paper

NM_002424.3

p.R397R

c.1189A>C

1 paper

NM_002424.3

p.G346C

c.1036G>T

1 paper

NM_002424.3

p.I341insFs

c.1022_1023insT

1 paper

NM_002424.3

p.D339_L340delFs

c.1017_1018delGG

1 paper

NM_002424.3

p.R338insFs

c.1012_1013insT

1 paper

NM_002424.3

p.A332T

c.994G>A